Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects

Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects

Background: Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its highly impaired respiratory phenotype. Methods: Here w...

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Bibliographic Details
Main Authors: Pasqualina Colella, Pauline Sellier, Manuel J. Gomez, Maria G. Biferi, Guillaume Tanniou, Nicolas Guerchet, Mathilde Cohen-Tannoudji, Maryse Moya-Nilges, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jacomina Krijnse-Locker, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Umut Cagin, Federico Mingozzi
Format: Article
Language:English
Published: Elsevier 2020-11-01
Series:EBioMedicine
Subjects:
Pompe disease
Mouse model
Respiratory function
Spinal cord
Muscle
AAV
Online Access:http://www.sciencedirect.com/science/article/pii/S235239642030428X

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http://www.sciencedirect.com/science/article/pii/S235239642030428X

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